Full List
| Disorder name | Mutation type | Chromosome |
|---|---|---|
| 1p36 deletion syndrome | D | 1p36 |
| 18p deletion syndrome | D | 18p |
| 21-hydroxylase deficiency | 6p21.3 | |
| 45,X |
C | X |
| 47,XX,+21 |
C | 21 |
| 47,XXX |
C | X |
| 47,XXY |
C | X |
| 47,XY,+21 |
C | 21 |
| 47,XYY syndrome | C | Y |
| 5-ALA dehydratase-deficient porphyria |
||
| 5-aminolaevulinic dehydratase deficiency porphyria |
||
| 5p deletion syndrome |
D | 5p |
| 5p- syndrome |
D | 5p |
| A-T |
||
| AAT |
||
| Absence of vas deferens |
||
| Absent vasa |
||
| aceruloplasminemia | ||
| ACG2 |
||
| ACH |
||
| Achondrogenesis type II | ||
| achondroplasia | substitution | 4p16.3 |
| Acid beta-glucosidase deficiency |
||
| Acrocephalosyndactyly (Apert) |
||
| acrocephalosyndactyly, type V |
||
| Acrocephaly |
||
| Acute cerebral Gaucher's disease |
||
| acute intermittent porphyria | ||
| ACY2 deficiency |
||
| AD |
||
| Adelaide-type craniosynostosis |
||
| Adenomatous Polyposis Coli |
||
| Adenomatous Polyposis of the Colon |
||
| ADP |
||
| adenylosuccinate lyase deficiency | ||
| Adrenal gland disorders |
||
| Adrenogenital syndrome |
||
| Adrenoleukodystrophy | ||
| AIP |
||
| AIS |
||
| AKU |
||
| ALA dehydratase porphyria |
||
| ALA-D porphyria |
||
| ALA dehydratase deficiency | ||
| Alcaptonuria |
||
| Alexander disease | ||
| alkaptonuria | ||
| Alkaptonuric ochronosis |
||
| alpha 1-antitrypsin deficiency | ||
| alpha-1 proteinase inhibitor |
14q32.1 | |
| alpha-1 related emphysema |
14q32.1 | |
| Alpha-galactosidase A deficiency |
P | Xq22.1 |
| ALS |
||
| Alström syndrome | ||
| ALX |
||
| Alzheimer's disease | ||
| Amelogenesis imperfecta | ||
| Amino levulinic acid dehydratase deficiency |
||
| Aminoacylase 2 deficiency |
||
| amyotrophic lateral sclerosis | ||
| Anderson-Fabry disease |
P | Xq22.1 |
| androgen insensitivity syndrome | ||
| Anemia | ||
| Anemia, hereditary sideroblastic |
X | |
| Anemia, sex-linked hypochromic sideroblastic |
X | |
| Anemia, splenic, familial |
||
| Angelman syndrome | ||
| Angiokeratoma Corporis Diffusum |
P | Xq22.1 |
| Angiokeratoma diffuse |
||
| Angiomatosis retinae |
||
| ANH1 |
X | |
| APC resistance, Leiden type |
||
| Apert syndrome | ||
| AR deficiency |
||
| AR-CMT2 |
||
| Arachnodactyly |
||
| ARNSHL |
||
| Arthro-ophthalmopathy, hereditary progressive |
||
| Arthrochalasis multiplex congenita |
||
| AS |
||
| Asp deficiency |
||
| Aspa deficiency |
||
| Aspartoacylase deficiency |
||
| ataxia telangiectasia | ||
| Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome |
||
| autosomal dominant juvenile ALS |
||
| Autosomal dominant opitz G/BBB syndrome |
D | 22q |
| autosomal recessive form of juvenile ALS type 3 |
||
| Autosomal recessive nonsyndromic hearing loss |
||
| Autosomal Recessive Sensorineural Hearing Impairment and Goiter |
||
| AxD |
||
| Ayerza syndrome |
||
| B variant of the Hexosaminidase GM2 gangliosidosis |
||
| BANF |
||
| Beare-Stevenson cutis gyrata syndrome | 10q26 | |
| Benign paroxysmal peritonitis |
||
| Benjamin syndrome | ||
| beta-thalassemia | ||
| BH4 Deficiency |
||
| Bilateral Acoustic Neurofibromatosis |
||
| biotinidase deficiency | ||
| bladder cancer | ||
| Bleeding disorders |
||
| Bloch-Sulzberger syndrome |
||
| Bloom syndrome | 15q26.1 | |
| Bone diseases | ||
| Bone marrow diseases |
||
| Bonnevie-Ullrich syndrome |
||
| Bourneville disease |
||
| Bourneville phakomatosis |
||
| Brain diseases |
||
| breast cancer | ||
| Birt–Hogg–Dubé syndrome | 17 | |
| Brittle bone disease |
||
| Broad Thumb-Hallux syndrome |
||
| Bronze Diabetes |
||
| Bronzed cirrhosis |
||
| Bulbospinal muscular atrophy, X-linked |
||
| Burger-Grutz syndrome |
||
| CADASIL syndrome | P | 3 |
| CGD Chronic granulomatous disorder | ||
| Campomelic dysplasia | C | 17q24.3-q25.1 |
| Canavan disease | ||
| Cancer | ||
| Cancer Family syndrome |
||
| Cancer of breast |
||
| Cancer of the bladder |
||
| Carboxylase Deficiency, Multiple, Late-Onset |
P | 3 |
| Cardiomyopathy |
||
| Cat cry syndrome |
||
| CAVD |
||
| Caylor cardiofacial syndrome |
D | 22q |
| CBAVD |
||
| Celiac Disease | ||
| CEP |
||
| Ceramide trihexosidase deficiency |
X | |
| Cerebelloretinal Angiomatosis, familial |
P | 3 (p26-p25) |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
P | 3 |
| Cerebral autosomal dominant ateriopathy with subcortical infarcts and leukoencephalopathy |
P | 3 |
| Cerebral sclerosis |
9 (q34), 16 (p13.3) | |
| Cerebroatrophic Hyperammonemia |
X | |
| Cerebroside Lipidosis syndrome |
P | 1(q21) |
| CF |
D (most common); or substitution |
CFTR (7q31.2) |
| CH |
||
| Charcot disease |
||
| Charcot-Marie-Tooth disease | ||
| Chondrodystrophia |
||
| Chondrodystrophy syndrome |
||
| Chondrodystrophy with sensorineural deafness |
||
| Chondrogenesis imperfecta |
||
| Choreoathetosis self-mutilation hyperuricemia syndrome |
P | X |
| Classic Galactosemia |
P | 9 (p13) |
| Classical Ehlers–Danlos syndrome |
||
| Classical Phenylketonuria |
||
| Cleft lip and palate |
||
| Cloverleaf skull with thanatophoric dwarfism |
||
| CLS |
||
| CMT |
||
| Cockayne syndrome | ||
| Coffin-Lowry syndrome | ||
| collagenopathy, types II and XI | ||
| Colon Cancer, familial Nonpolyposis |
||
| Colon cancer, familial |
||
| Colorectal cancer | ||
| Complete HPRT deficiency |
||
| Complete hypoxanthine-guanine phosphoribosyltransferase deficiency |
||
| Compression neuropathy |
||
| Congenital adrenal hyperplasia |
||
| congenital bilateral absence of vas deferens |
||
| Congenital erythropoietic porphyria | ||
| Congenital heart disease | ||
| Congenital hypomyelination |
||
| Congenital hypothyroidism | ||
| Congenital methemoglobinemia |
||
| Congenital osteosclerosis |
||
| Congenital sideroblastic anaemia |
X | |
| Connective tissue disease | ||
| Conotruncal anomaly face syndrome |
D | 22q |
| Cooley's Anemia |
||
| Copper storage disease |
13 (q14.3) | |
| Copper transport disease |
||
| Coproporphyria, hereditary |
||
| Coproporphyrinogen oxidase deficiency |
||
| Cowden syndrome | ||
| CPO deficiency |
||
| CPRO deficiency |
||
| CPX deficiency |
||
| Craniofacial dysarthrosis |
||
| Craniofacial Dysostosis |
||
| Cretinism |
||
| Creutzfeldt-Jakob disease |
||
| Cri du chat | D | 5p |
| Crohn's disease, fibrostenosing | P | 16q12 |
| Crouzon syndrome | FGFR2 (10q25.3-q26) | |
| Crouzon syndrome with acanthosis nigricans |
||
| Crouzonodermoskeletal syndrome | ||
| CS |
||
| Curschmann-Batten-Steinert syndrome |
||
| cutis gyrata syndrome of Beare-Stevenson |
||
| D-glycerate dehydrogenase deficiency |
||
| Dappled metaphysis syndrome |
||
| DAT - Dementia Alzheimer's type |
||
| Genetic hypercalciuria |
Xp11.22 | |
| DBMD |
||
| Deafness with goiter |
||
| Deafness-retinitis pigmentosa syndrome |
||
| Deficiency disease, Phenylalanine Hydroxylase |
P | 12q |
| Degenerative nerve diseases | ||
| de Grouchy syndrome 1 |
D | 18p |
| Dejerine-Sottas syndrome |
||
| Delta-aminolevulinate dehydratase deficiency porphyria |
||
| Dementia |
||
| demyelinogenic leukodystrophy |
||
| Dermatosparactic type of Ehlers–Danlos syndrome |
||
| Dermatosparaxis |
||
| developmental disabilities | ||
| dHMN |
||
| DHMN-V |
||
| DHTR deficiency |
X | |
| Diffuse Globoid Body Sclerosis |
||
| Di George's syndrome | D | 22q |
| Dihydrotestosterone receptor deficiency |
X | |
| distal spinal muscular atrophy, type V | ||
| DM1 |
T | 19 |
| DM2 |
T | 3 |
| Down syndrome | 21 | |
| DSMAV |
||
| DSN |
||
| DSS |
||
| Duchenne/Becker muscular dystrophy |
||
| Dwarf, achondroplastic |
3 | |
| Dwarf, thanatophoric |
||
| Dwarfism | ||
| Dwarfism-retinal atrophy-deafness syndrome |
||
| dysmyelinogenic leukodystrophy |
||
| Dystrophia myotonica |
T | 19 |
| dystrophia retinae pigmentosa-dysostosis syndrome |
||
| Early-Onset familial alzheimer disease (EOFAD) |
||
| EDS |
||
| Ehlers–Danlos syndrome | ||
| Ekman-Lobstein disease |
||
| Entrapment neuropathy |
||
| Epiloia |
||
| EPP |
||
| Erythroblastic anemia |
||
| Erythrohepatic protoporphyria |
||
| Erythroid 5-aminolevulinate synthetase deficiency |
||
| Erythropoietic porphyria |
||
| erythropoietic protoporphyria | ||
| Erythropoietic uroporphyria |
||
| Eye cancer |
||
| FA |
||
| Fabry disease | P | Xq22.1 |
| Facial injuries and disorders | ||
| factor V Leiden thrombophilia | ||
| FALS |
||
| familial acoustic neuroma |
||
| familial adenomatous polyposis | ||
| familial Alzheimer disease (FAD) |
||
| familial amyotrophic lateral sclerosis |
||
| familial dysautonomia | ||
| familial fat-induced hypertriglyceridemia |
||
| familial hemochromatosis |
||
| familial LPL deficiency |
||
| familial nonpolyposis colon cancer |
||
| familial paroxysmal polyserositis |
||
| familial PCT |
||
| familial pressure sensitive neuropathy |
||
| familial primary pulmonary hypertension (FPPH) |
||
| Familial Turner syndrome |
||
| familial vascular leukoencephalopathy |
||
| FAP |
||
| FD |
||
| Female pseudo-Turner syndrome |
||
| Ferrochelatase deficiency |
||
| ferroportin disease |
||
| Fever |
||
| FG syndrome | ||
| FGFR3-associated coronal synostosis |
||
| Fibrinoid degeneration of astrocytes |
||
| Fibrocystic disease of the pancreas |
||
| FMF |
||
| Folling disease |
||
| fra(X) syndrome |
Xq27.3 | |
| fragile X syndrome | Xq27.3 | |
| Fragilitas ossium |
||
| FRAXA syndrome |
Xq27.3 | |
| FRDA |
||
| Friedreich's ataxia |
||
| Friedreich's ataxia | ||
| FXS |
Xq27.3 | |
| G6PD deficiency | ||
| Galactokinase deficiency disease |
||
| Galactose-1-phosphate uridyl-transferase deficiency disease |
||
| galactosemia | ||
| Galactosylceramidase deficiency disease |
||
| Galactosylceramide lipidosis |
||
| galactosylcerebrosidase deficiency |
||
| galactosylsphingosine lipidosis |
||
| GALC deficiency |
||
| GALT deficiency |
||
| Gaucher disease | ||
| Gaucher-like disease |
||
| GBA deficiency |
||
| GD |
||
| Genetic brain disorders | ||
| genetic emphysema |
||
| genetic hemochromatosis |
||
| Giant cell hepatitis, neonatal |
||
| GLA deficiency |
||
| Glioblastoma, retinal |
||
| Glioma, retinal |
||
| globoid cell leukodystrophy (GCL, GLD) |
||
| globoid cell leukoencephalopathy |
||
| Glucocerebrosidase deficiency |
||
| Glucocerebrosidosis |
||
| Glucosyl cerebroside lipidosis |
||
| Glucosylceramidase deficiency |
||
| Glucosylceramide beta-glucosidase deficiency |
||
| Glucosylceramide lipidosis |
||
| Glyceric aciduria |
||
| Glycine encephalopathy |
||
| Glycolic aciduria |
||
| GM2 gangliosidosis, type 1 |
||
| Goiter-deafness syndrome |
||
| Graefe-Usher syndrome |
||
| Gronblad-Strandberg syndrome |
||
| Guenther porphyria |
||
| Gunther disease |
||
| Haemochromatosis |
||
| Hallgren syndrome |
||
| Harlequin type ichthyosis | ||
| Hb S disease |
||
| HCH |
||
| HCP |
||
| Head and brain malformations | ||
| Hearing disorders and deafness | ||
| Hearing problems in children | ||
| HEF2A |
||
| HEF2B |
||
| Hematoporphyria |
||
| Heme synthetase deficiency |
||
| Hemochromatoses |
||
| hemochromatosis | ||
| hemoglobin M disease |
||
| Hemoglobin S disease |
||
| hemophilia | ||
| HEP |
||
| hepatic AGT deficiency |
||
| hepatoerythropoietic porphyria | ||
| Hepatolenticular degeneration syndrome |
||
| Hereditary arthro-ophthalmopathy |
||
| Hereditary coproporphyria | P | 3q12 |
| Hereditary dystopic lipidosis |
||
| Hereditary hemochromatosis (HHC) |
||
| Hereditary hemorrhagic telangiectasia (HHT) | ||
| Hereditary Inclusion Body Myopathy |
||
| Hereditary iron-loading anemia |
||
| Hereditary motor and sensory neuropathy |
||
| Hereditary motor neuronopathy |
||
| Hereditary motor neuronopathy, type V |
||
| Hereditary multiple exostoses | ||
| Hereditary nonpolyposis colorectal cancer | DNA mismatch repair dysfunction usually in MSH2 and MLH1 genes |
usually chromosomes 2 and 3 |
| Hereditary periodic fever syndrome |
||
| Hereditary Polyposis Coli |
||
| Hereditary pulmonary emphysema |
||
| Hereditary resistance to activated protein C |
||
| Hereditary sensory and autonomic neuropathy type III |
||
| Hereditary spastic paraplegia |
||
| Hereditary spinal ataxia |
||
| Hereditary spinal sclerosis |
||
| Herrick's anemia |
||
| Heterozygous OSMED |
||
| Heterozygous otospondylomegaepiphyseal dysplasia |
||
| HexA deficiency |
||
| Hexosaminidase A deficiency |
||
| Hexosaminidase alpha-subunit deficiency (variant B) |
||
| HFE-associated hemochromatosis |
||
| HGPS |
||
| Hippel-Lindau disease |
||
| HLAH |
||
| HMN V |
||
| HMSN |
||
| HNPCC |
||
| HNPP |
||
| homocystinuria | ||
| Homogentisic acid oxidase deficiency |
||
| Homogentisic acidura |
||
| Homozygous porphyria cutanea tarda |
||
| HP1 |
||
| HP2 |
||
| HPA |
||
| HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency |
||
| HSAN type III |
||
| HSAN3 |
||
| HSN-III |
||
| Human dermatosparaxis |
||
| Huntington's disease | T | 4p16.3 |
| Hutchinson-Gilford progeria syndrome |
||
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency |
||
| Hyperchylomicronemia, familial |
||
| Hyperglycinemia with ketoacidosis and leukopenia |
||
| Hyperlipoproteinemia type I |
||
| hyperoxaluria, primary | ||
| hyperphenylalaninaemia |
||
| hyperphenylalaninemia | ||
| Hypochondrodysplasia |
||
| Hypochondrogenesis | ||
| Hypochondroplasia | 4p16.3 | |
| Hypochromic anemia |
||
| Hypocupremia, congenital |
||
| Hypoxanthine phosphoribosyltransferse (HPRT) deficiency |
||
| IAHSP |
||
| ICF syndrome |
20q11.2 | |
| Idiopathic hemochromatosis |
||
| Idiopathic neonatal hemochromatosis |
||
| Idiopathic pulmonary hypertension |
||
| Immune system disorders |
||
| Incontinentia pigmenti | P | Xq28 |
| Infantile cerebral Gaucher's disease |
||
| Infantile Gaucher disease |
||
| infantile-onset ascending hereditary spastic paralysis | ||
| Infertility | ||
| inherited emphysema |
||
| Inherited human transmissible spongiform encephalopathies |
||
| inherited tendency to pressure palsies |
||
| Insley-Astley syndrome |
||
| Intermittent acute porphyria syndrome |
||
| Intestinal polyposis-cutaneous pigmentation syndrome |
||
| IP |
||
| Iron storage disorder |
||
| Isodicentric 15 |
Inv dup | 15q11-14 |
| Isolated deafness |
||
| Jackson-Weiss syndrome | ||
| JH |
||
| Joubert syndrome | ||
| JPLS |
ALS2 | |
| juvenile amyotrophic lateral sclerosis |
||
| Juvenile gout, choreoathetosis, mental retardation syndrome |
||
| juvenile hyperuricemia syndrome |
||
| JWS |
||
| KD |
||
| Kennedy disease |
||
| Kennedy spinal and bulbar muscular atrophy |
||
| Kerasin histiocytosis |
||
| Kerasin lipoidosis |
||
| Kerasin thesaurismosis |
||
| ketotic glycinemia |
||
| ketotic hyperglycinemia |
||
| Kidney diseases |
||
| Klinefelter syndrome | ||
| Klinefelter syndrome |
||
| Kniest dysplasia | ||
| Krabbe disease | ||
| Lacunar dementia |
||
| Langer-Saldino achondrogenesis |
||
| Langer-Saldino dysplasia |
||
| Late-onset Alzheimer disease |
||
| Late-onset familial Alzheimer disease (AD2) |
||
| late-onset Krabbe disease (LOKD) |
||
| Learning Disorders |
||
| Lentiginosis, perioral |
||
| Lesch-Nyhan syndrome | ||
| Leukodystrophies | ||
| leukodystrophy with Rosenthal fibers |
||
| Leukodystrophy, spongiform |
||
| LFS |
||
| Li-Fraumeni syndrome | ||
| Lipase D deficiency |
||
| LIPD deficiency |
||
| Lipidosis, cerebroside |
||
| Lipidosis, ganglioside, infantile |
||
| Lipoid histiocytosis (kerasin type) |
||
| lipoprotein lipase deficiency, familial | ||
| Liver diseases |
||
| Lou Gehrig disease |
||
| Louis-Bar syndrome |
||
| Lynch syndrome |
||
| Lysyl-hydroxylase deficiency |
||
| Machado-Joseph disease |
||
| Male breast cancer |
||
| Male genital disorders | ||
| Male Turner syndrome |
||
| Malignant neoplasm of breast |
||
| malignant tumor of breast |
||
| Malignant tumor of urinary bladder |
||
| Mammary cancer |
||
| Marfan syndrome | 15 | |
| Marker X syndrome |
||
| Martin-Bell syndrome |
||
| McCune–Albright syndrome | 20 q13.2-13.3 | |
| McLeod syndrome | X | |
| MEDNIK | D | AP1S1 |
| Mediterranean Anemia |
||
| Mediterranean fever, familial | ||
| Mega-epiphyseal dwarfism |
||
| Menkea syndrome |
||
| Menkes disease | ||
| Mental retardation with osteocartilaginous abnormalities |
||
| Metabolic disorders | ||
| Metatropic dwarfism, type II |
||
| Metatropic dysplasia type II |
||
| Methemoglobinemia#beta-globin type | ||
| methylmalonic acidemia | ||
| MFS |
||
| MHAM |
||
| MK |
||
| Micro syndrome | 2q21.3 | |
| Microcephaly | P | 1q31 (ASPM) |
| MMA |
||
| MNK |
||
| Monosomy 1p36 syndrome |
D | 1p36 |
| monosomy X |
||
| Motor neuron disease, amyotrophic lateral sclerosis |
||
| Movement disorders | ||
| Mowat-Wilson syndrome | ||
| Mucopolysaccharidosis (MPS I) | ||
| Mucoviscidosis |
||
| Muenke syndrome | ||
| Multi-Infarct dementia |
||
| Multiple carboxylase deficiency, late-onset |
||
| Multiple hamartoma syndrome |
||
| Multiple neurofibromatosis |
||
| Muscular dystrophy | ||
| Muscular dystrophy, Duchenne and Becker type | ||
| Myotonia atrophica |
||
| Myotonia dystrophica |
||
| myotonic dystrophy | ||
| Myxedema, congenital |
||
| Nance-Insley syndrome |
||
| Nance-Sweeney chondrodysplasia |
||
| NBIA1 |
||
| Neill-Dingwall syndrome |
||
| Neuroblastoma, retinal |
||
| Neurodegeneration with brain iron accumulation type 1 |
||
| Neurofibromatosis type I | 17q11.2 | |
| Neurofibromatosis type II | ||
| Neurologic diseases | ||
| Neuromuscular disorders | ||
| neuronopathy, distal hereditary motor, type V |
||
| neuronopathy, distal hereditary motor, with pyramidal features |
||
| Niemann-Pick |
NPA, NPB, NPC1, NPC2, Sphingomyelin phosphodiesterase 1 |
SMPD1 |
| Noack syndrome |
||
| Nonketotic hyperglycinemia |
||
| Non-neuronopathic Gaucher disease |
||
| Non-phenylketonuric hyperphenylalaninemia |
||
| nonsyndromic deafness | ||
| Noonan syndrome | ||
| Norrbottnian Gaucher disease |
||
| Ochronosis |
||
| Ochronotic arthritis |
||
| OI |
||
| Osler-Weber-Rendu disease |
||
| OSMED |
||
| osteogenesis imperfecta | ||
| Osteopsathyrosis |
||
| Osteosclerosis congenita |
||
| Oto-spondylo-megaepiphyseal dysplasia |
||
| otospondylomegaepiphyseal dysplasia | ||
| Oxalosis |
||
| Oxaluria, primary |
||
| pantothenate kinase-associated neurodegeneration | ||
| Patau Syndrome (Trisomy 13) | ||
| PBGD deficiency |
||
| PCC deficiency |
||
| PCT |
||
| PDM |
||
| Pendred syndrome | ||
| Periodic disease |
||
| Periodic peritonitis |
||
| Periorificial lentiginosis syndrome |
||
| Peripheral nerve disorders |
||
| Peripheral neurofibromatosis |
||
| Peroneal muscular atrophy |
||
| peroxisomal alanine:glyoxylate aminotransferase deficiency |
||
| Peutz-Jeghers syndrome | ||
| Pfeiffer syndrome | ||
| Phenylalanine hydroxylase deficiency disease |
||
| phenylketonuria | ||
| Pheochromocytoma |
||
| Pierre Robin syndrome with fetal chondrodysplasia |
||
| Pigmentary cirrhosis |
||
| PJS |
||
| PKAN |
||
| PKU |
||
| Plumboporphyria |
||
| PMA |
||
| Polycystic kidney disease | P | 16 (PKD1) or 4 (PKD2) |
| polyostotic fibrous dysplasia |
20 q13.2-13.3 | |
| polyposis coli |
||
| polyposis, hamartomatous intestinal |
||
| polyposis, intestinal, II |
||
| polyps-and-spots syndrome |
||
| Porphobilinogen synthase deficiency |
||
| porphyria | ||
| porphyrin disorder |
||
| PPH |
||
| PPOX deficiency |
||
| Prader-Labhart-Willi syndrome |
||
| Prader-Willi syndrome | ||
| presenile and senile dementia |
||
| primary hemochromatosis |
||
| primary hyperuricemia syndrome |
||
| primary pulmonary hypertension | ||
| primary senile degenerative dementia |
||
| prion disease | ||
| procollagen type EDS VII, mutant |
||
| progeria |
||
| Progeria-like syndrome |
||
| progeroid nanism |
||
| progressive chorea, chronic hereditary (Huntington) |
||
| progressive muscular atrophy |
||
| progressively deforming osteogenesis imperfecta with normal sclerae |
||
| PROMM |
||
| propionic acidemia | ||
| propionyl-CoA carboxylase deficiency |
||
| protein C deficiency | ||
| protein S deficiency | ||
| protoporphyria |
||
| protoporphyrinogen oxidase deficiency |
||
| proximal myotonic dystrophy |
||
| proximal myotonic myopathy |
||
| pseudo-Gaucher disease | ||
| pseudo-Ullrich-Turner syndrome |
||
| pseudoxanthoma elasticum | ||
| psychosine lipidosis |
||
| pulmonary arterial hypertension |
||
| pulmonary hypertension |
||
| PWS |
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| PXE - pseudoxanthoma elasticum |
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| Rb |
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| Recklinghausen disease, nerve |
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| Recurrent polyserositis |
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| Retinal disorders | ||
| Retinitis pigmentosa-deafness syndrome |
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| Retinoblastoma | ||
| Rett syndrome | ||
| RFALS type 3 |
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| Ricker syndrome |
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| Riley-Day syndrome |
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| Roussy-Levy syndrome |
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| RSTS |
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| RTS |
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| RTT |
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| Rubinstein-Taybi syndrome | ||
| Sack-Barabas syndrome |
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| SADDAN | ||
| sarcoma family syndrome of Li and Fraumeni |
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| sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome |
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| SBLA syndrome |
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| SBMA |
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| SCD |
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| Schwannoma, acoustic, bilateral |
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| SCIDX1 |
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| sclerosis tuberosa |
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| SDAT |
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| SED congenita |
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| SED Strudwick |
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| SEDc |
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| SEMD, Strudwick type |
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| senile dementia |
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| severe achondroplasia with developmental delay and acanthosis nigricans |
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| Shprintzen syndrome |
D | 22q |
| sickle cell anemia | D | 18q |
| Siderius X-linked mental retardation syndrome |
PD | Xp11.22 |
| skeleton-skin-brain syndrome |
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| Skin pigmentation disorders | ||
| SMA |
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| SMED, Strudwick type |
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| SMED, type I |
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| Smith-Lemli-Opitz syndrome | ||
| South-African genetic porphyria |
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| spastic paralysis, infantile onset ascending |
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| Speech and communication disorders | ||
| sphingolipidosis, Tay-Sachs |
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| spinal-bulbar muscular atrophy | ||
| spinal muscular atrophy | ||
| spinal muscular atrophy, distal type V |
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| spinal muscular atrophy, distal, with upper limb predominance |
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| spinocerebellar ataxia | ||
| spondyloepimetaphyseal dysplasia, Strudwick type | ||
| spondyloepiphyseal dysplasia congenita | ||
| spondyloepiphyseal dysplasia |
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| spondylometaepiphyseal dysplasia congenita, Strudwick type |
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| spondylometaphyseal dysplasia (SMD) |
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| spondylometaphyseal dysplasia, Strudwick type |
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| spongy degeneration of central nervous system |
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| spongy degeneration of the brain |
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| spongy degeneration of white matter in infancy |
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| sporadic primary pulmonary hypertension |
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| SSB syndrome |
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| steely hair syndrome |
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| Steinert disease |
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| Steinert myotonic dystrophy syndrome |
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| Stickler syndrome | ||
| stroke |
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| Strudwick syndrome |
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| subacute neuronopathic Gaucher disease |
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| Swedish genetic porphyria |
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| Swedish porphyria |
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| Swiss cheese cartilage dysplasia |
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| Tay-Sachs disease | ||
| TD - thanatophoric dwarfism |
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| TD with straight femurs and cloverleaf skull |
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| Telangiectasia, cerebello-oculocutaneous |
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| Testicular feminization syndrome |
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| tetrahydrobiopterin deficiency | ||
| TFM - testicular feminization syndrome |
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| thalassemia intermedia |
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| Thalassemia Major |
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| thanatophoric dysplasia | ||
| Thrombophilia due to deficiency of cofactor for activated protein C, Leiden type |
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| Thyroid disease | ||
| Tomaculous neuropathy |
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| Total HPRT deficiency |
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| Total hypoxanthine-guanine phosphoribosyl transferase deficiency |
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| Transmissible dementias |
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| Transmissible spongiform encephalopathies |
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| Treacher Collins syndrome | 5q32-q33.1 | |
| Trias fragilitis ossium |
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| triple X syndrome | ||
| Triplo X syndrome |
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| Trisomy 21 |
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| Trisomy X |
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| Troisier-Hanot-Chauffard syndrome |
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| TS |
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| TSD |
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| TSEs |
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| tuberose sclerosis |
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| tuberous sclerosis | ||
| Turner syndrome | ||
| Turner syndrome in female with X chromosome |
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| Turner's phenotype, karyotype normal |
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| Turner's syndrome |
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| Turner-like syndrome |
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| Type 2 Gaucher disease |
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| Type 3 Gaucher disease |
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| UDP-galactose-4-epimerase deficiency disease |
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| UDP glucose 4-epimerase deficiency disease |
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| UDP glucose hexose-1-phosphate uridylyltransferase deficiency |
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| Ullrich-Noonan syndrome |
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| Ullrich-Turner syndrome |
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| Undifferentiated deafness |
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| UPS deficiency |
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| Urinary bladder cancer |
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| UROD deficiency |
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| Uroporphyrinogen decarboxylase deficiency |
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| Uroporphyrinogen synthase deficiency |
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| UROS deficiency |
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| Usher syndrome | ||
| UTP hexose-1-phosphate uridylyltransferase deficiency |
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| Van Bogaert-Bertrand syndrome |
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| Van der Hoeve syndrome |
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| variegate porphyria | ||
| Velocardiofacial syndrome |
D | 22q |
| VHL syndrome |
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| Vision impairment and blindness |
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| Von Bogaert-Bertrand disease |
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| von Hippel-Lindau disease | ||
| Von Recklenhausen-Applebaum disease |
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| von Recklinghausen disease |
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| VP |
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| Vrolik disease |
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| Waardenburg syndrome | ||
| Warburg Sjo Fledelius Syndrome |
2q21.3 | |
| WD |
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| Weissenbacher-Zweymüller syndrome | ||
| Williams Syndrome | ||
| Wilson disease | ||
| Wilson's disease |
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| Wolf–Hirschhorn syndrome | D | 4p |
| Wolff Periodic disease |
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| WZS |
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| Xeroderma pigmentosum | ERCC4 | 15 |
| X-linked mental retardation and macroorchidism |
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| X-linked primary hyperuricemia |
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| X-linked severe combined immunodeficiency | ||
| X-linked sideroblastic anemia | ||
| X-linked spinal-bulbar muscle atrophy |
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| X-linked uric aciduria enzyme defect |
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| X-SCID |
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| XLSA |
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| XSCID |
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| XXX syndrome |
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| XXXX syndrome |
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| XXXXX syndrome |
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| XXY syndrome |
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| XXY trisomy |
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| XYY karyotype |
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| XYY syndrome |
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| YY syndrome |
Read more about this topic: List Of Genetic Disorders
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